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- source_evidence_literature type ECO_0000212 NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_assertion description "[We also detected the heterozygous -16C --> T single nucleotide substitution within the puratrophin-1 gene responsible for 16q22.1-linked ADCA in ten families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_assertion evidence source_evidence_literature NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_assertion SIO_000772 17805477 NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_assertion wasDerivedFrom befree-20140225 NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_assertion wasGeneratedBy ECO_0000203 NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP723795.RAXMcla7fq7BuwQCqi9VvhyuYG1eiTr0L7immNomQFxdA130_provenance.